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HMBOX1 (homeobox containing 1)

Identity

Alias (NCBI)HNF1LA
HOT1
PBHNF
TAH1
HGNC (Hugo) HMBOX1
HGNC Alias symbHNF1LA
PBHNF
FLJ21616
HOT1
HGNC Alias namehomeobox telomere-binding protein 1
LocusID (NCBI) 79618
Atlas_Id 51358
Location 8p21.1  [Link to chromosome band 8p21]
Location_base_pair Starts at 28890708 and ends at 29053270 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HMBOX1 (8p21.1) / MALAT1 (11q13.1)HMBOX1 (8p21.1) / SCARA3 (8p21.1)HMBOX1 (8p21.1) / ZFAND3 (6p21.2)
SRSF6 (20q13.11) / HMBOX1 (8p21.1)HMBOX1 8p21.1 / SCARA3 8p21.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(8;9)(p21;p24) HMBOX1/JAK2


External links

 

Nomenclature
HGNC (Hugo)HMBOX1   26137
Cards
Entrez_Gene (NCBI)HMBOX1    homeobox containing 1
AliasesHNF1LA; HOT1; PBHNF; TAH1
GeneCards (Weizmann)HMBOX1
Ensembl hg19 (Hinxton)ENSG00000147421 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147421 [Gene_View]  ENSG00000147421 [Sequence]  chr8:28890708-29053270 [Contig_View]  HMBOX1 [Vega]
ICGC DataPortalENSG00000147421
TCGA cBioPortalHMBOX1
AceView (NCBI)HMBOX1
Genatlas (Paris)HMBOX1
SOURCE (Princeton)HMBOX1
Genetics Home Reference (NIH)HMBOX1
Genomic and cartography
GoldenPath hg38 (UCSC)HMBOX1  -     chr8:28890708-29053270 +  8p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HMBOX1  -     8p21.1   [Description]    (hg19-Feb_2009)
GoldenPathHMBOX1 - 8p21.1 [CytoView hg19]  HMBOX1 - 8p21.1 [CytoView hg38]
ImmunoBaseENSG00000147421
Genome Data Viewer NCBIHMBOX1 [Mapview hg19]  
OMIM618610   
Gene and transcription
Genbank (Entrez)AA400589 AK025269 AK096237 AK290683 AK295320
RefSeq transcript (Entrez)NM_001135726 NM_001324382 NM_001324383 NM_001324384 NM_001324385 NM_001324386 NM_001324387 NM_001324388 NM_001324389 NM_001324390 NM_001324391 NM_001324392 NM_001324393 NM_001324394 NM_001324395 NM_001330498 NM_024567
Consensus coding sequences : CCDS (NCBI)HMBOX1
Gene ExpressionHMBOX1 [ NCBI-GEO ]   HMBOX1 [ EBI - ARRAY_EXPRESS ]   HMBOX1 [ SEEK ]   HMBOX1 [ MEM ]
Gene Expression Viewer (FireBrowse)HMBOX1 [ Firebrowse - Broad ]
GenevisibleExpression of HMBOX1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79618
GTEX Portal (Tissue expression)HMBOX1
Human Protein AtlasENSG00000147421-HMBOX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NT76   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NT76  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NT76
PhosPhoSitePlusQ6NT76
Domaine pattern : Prosite (Expaxy)HNF_P1 (PS51937)    HOMEOBOX_2 (PS50071)    POU_4 (PS51936)   
Domains : Interpro (EBI)Cro/C1-type_HTH    HMBOX1    HNF-1_N    Homeobox-like_sf    Homeobox_dom    Lambda_DNA-bd_dom_sf   
Domain families : Pfam (Sanger)HNF-1_N (PF04814)    Homeodomain (PF00046)   
Domain families : Pfam (NCBI)pfam04814    pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)HMBOX1
PDB (RSDB)2CUF    4J19   
PDB Europe2CUF    4J19   
PDB (PDBSum)2CUF    4J19   
PDB (IMB)2CUF    4J19   
Structural Biology KnowledgeBase2CUF    4J19   
SCOP (Structural Classification of Proteins)2CUF    4J19   
CATH (Classification of proteins structures)2CUF    4J19   
SuperfamilyQ6NT76
AlphaFold pdb e-kbQ6NT76   
Human Protein Atlas [tissue]ENSG00000147421-HMBOX1 [tissue]
HPRD07964
Protein Interaction databases
DIP (DOE-UCLA)Q6NT76
IntAct (EBI)Q6NT76
BioGRIDHMBOX1
STRING (EMBL)HMBOX1
ZODIACHMBOX1
Ontologies - Pathways
QuickGOQ6NT76
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromosome, telomeric region  chromosome, telomeric region  chromatin  double-stranded telomeric DNA binding  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  centrosome  cytosol  Cajal body  nuclear body  PML body  positive regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  positive regulation of chromatin binding  telomeric DNA binding  telomeric DNA binding  identical protein binding  sequence-specific DNA binding  protein-containing complex binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  regulation of telomerase activity  positive regulation of telomerase activity  positive regulation of telomerase activity  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromosome, telomeric region  chromosome, telomeric region  chromatin  double-stranded telomeric DNA binding  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  centrosome  cytosol  Cajal body  nuclear body  PML body  positive regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  positive regulation of chromatin binding  telomeric DNA binding  telomeric DNA binding  identical protein binding  sequence-specific DNA binding  protein-containing complex binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  regulation of telomerase activity  positive regulation of telomerase activity  positive regulation of telomerase activity  sequence-specific double-stranded DNA binding  
NDEx NetworkHMBOX1
Atlas of Cancer Signalling NetworkHMBOX1
Wikipedia pathwaysHMBOX1
Orthology - Evolution
OrthoDB79618
GeneTree (enSembl)ENSG00000147421
Phylogenetic Trees/Animal Genes : TreeFamHMBOX1
Homologs : HomoloGeneHMBOX1
Homology/Alignments : Family Browser (UCSC)HMBOX1
Gene fusions - Rearrangements
Fusion : MitelmanHMBOX1/SCARA3 [8p21.1/8p21.1]  
Fusion : MitelmanHMBOX1/ZFAND3 [8p21.1/6p21.2]  
Fusion : QuiverHMBOX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHMBOX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMBOX1
dbVarHMBOX1
ClinVarHMBOX1
MonarchHMBOX1
1000_GenomesHMBOX1 
Exome Variant ServerHMBOX1
GNOMAD BrowserENSG00000147421
Varsome BrowserHMBOX1
ACMGHMBOX1 variants
VarityQ6NT76
Genomic Variants (DGV)HMBOX1 [DGVbeta]
DECIPHERHMBOX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHMBOX1 
Mutations
ICGC Data PortalHMBOX1 
TCGA Data PortalHMBOX1 
Broad Tumor PortalHMBOX1
OASIS PortalHMBOX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHMBOX1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DHMBOX1
Mutations and Diseases : HGMDHMBOX1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaHMBOX1
DgiDB (Drug Gene Interaction Database)HMBOX1
DoCM (Curated mutations)HMBOX1
CIViC (Clinical Interpretations of Variants in Cancer)HMBOX1
Cancer3DHMBOX1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618610   
Orphanet
DisGeNETHMBOX1
MedgenHMBOX1
Genetic Testing Registry HMBOX1
NextProtQ6NT76 [Medical]
GENETestsHMBOX1
Target ValidationHMBOX1
Huge Navigator HMBOX1 [HugePedia]
ClinGenHMBOX1
Clinical trials, drugs, therapy
MyCancerGenomeHMBOX1
Protein Interactions : CTDHMBOX1
Pharm GKB GenePA143485490
PharosQ6NT76
Clinical trialHMBOX1
Miscellaneous
canSAR (ICR)HMBOX1
HarmonizomeHMBOX1
DataMed IndexHMBOX1
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHMBOX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:12:32 CEST 2021

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